Canonical Allele Identifier: CA2639298328

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63832412-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832419del , CM000679.2:g.63832419del	GRCh38
NC_000017.10:g.61909779del , CM000679.1:g.61909779del	GRCh37
NC_000017.9:g.59263511del	NCBI36
NG_053004.1:g.15579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2400del
ENST00000697953.1:n.2973del
ENST00000698013.1:n.3085del
ENST00000698014.1:n.3308del
ENST00000698015.1:n.2401del
ENST00000698016.1:c.*525del	ENSP00000513502.1:n.*525del
ENST00000698017.1:n.2475del
ENST00000698018.1:n.2606del
ENST00000698019.1:n.2804del
ENST00000698020.1:n.1910del
ENST00000698021.1:c.1819del
ENST00000698022.1:c.*525del	ENSP00000513504.1:n.*525del
ENST00000698023.1:n.2504del
ENST00000698024.1:n.2366del
ENST00000698025.1:n.2526del
ENST00000698026.1:n.1417del
ENST00000698027.1:c.*742del	ENSP00000513505.1:n.*742del
ENST00000698028.1:n.2609del
ENST00000698029.1:n.3338del
ENST00000448276.7:c.*525del MANE Select	ENSP00000392617.2:n.*525del
ENST00000448276.6:c.*525del	ENSP00000392617.2:n.*525del
ENST00000613943.4:c.2010del	ENSP00000483605.1:n.2010del
NM_001098426.1:c.*525del	NP_001091896.1:n.*525del
XM_005257604.2:c.*525del	XP_005257661.2:n.*525del
NM_001330439.1:c.*525del	NP_001317368.1:n.*525del
NM_001330440.1:c.*525del	NP_001317369.1:n.*525del
NM_001098426.2:c.*525del MANE Select	NP_001091896.1:n.*525del
NM_001330440.2:c.*525del	NP_001317369.1:n.*525del